Personal Health Data Spaces for precision prevention and continuity of care: integrating genomic, imaging, and clinical data in primary care.
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Personal Health Data Spaces↗
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Implementation of a Face-To-Face Vs Virtual Peer-Integrated Collaborative Care Intervention for Mental Health Treatment of Physical Trauma Survivors: A Qualitative Study of Lessons from the COVID-19 Pandemic.
OBJECTIVE: We assessed the impact of the COVID-19 pandemic on the implementation of a peer-integrated enhancement of integrated clinical care intervention to address the mental health needs of 450 patients undergoing treatment for a physical injury. METHODS: Qualitative data were collected by 7 clinician investigators of a randomized controlled trial acting as participant observers in a trauma care setting of a major U.S. metropolitan hospital and analyzed in collaboration with an external mixed methods specialist. RESULTS: The pandemic created or exacerbated several implementation barriers, including increased risk of infection, homelessness, hospitalizations and comorbid conditions such as fentanyl overdoses that increased demand on emergency department and Trauma Center services, imposition of safety measures to reduce risk of infection in clinical settings, transition from face-to-face to virtual interactions with study patients, shortages of specialty mental health providers, suspension of recruitment of patients into the study, scheduling calls with patients, and an increased workload for the study clinical interventionists. Peer specialists perceived the transition to virtual interactions with patients reduced their effectiveness; however, this was not reflected in assessments of patient satisfaction with services received and may have inadvertently increased adoption by Trauma Center staff. Reduction in reach of the intervention to target population was temporary. CONCLUSIONS: The COVID-19 pandemic exacerbated existing barriers and created new barriers to successfully implementing evidence-based practices in trauma care settings, resulting in an attenuation of their effectiveness. However, the shift from face-to-face to virtual services delivery may have actually led to improved implementation outcomes. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03569878. Registered June 15, 2018.
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Mixed Methods Findings from a Stepped Wedge Hybrid Implementation Trial of ATTAIN NAV: A Mental Health Family Navigation Intervention for Autistic Youth.
ATTAIN NAV (Access to Tailored Autism Integrated Care through Family Navigation) was delivered by family navigators to promote access to and engagement with mental health services for school-age autistic youth. This study used a mixed method, stepped wedge design to test the effects of family navigation on service and clinical outcomes while gathering information on implementation. Primary care providers from six clinics in California and 56 caregiver-child dyads enrolled in and completed the study. Clinics were randomized to either a technology-enhanced or standard family navigation condition. Caregivers completed assessments at baseline and post about child, family and services outcomes, and a subset participated in a post qualitative interview. Quantitative findings demonstrated improvements in child challenging behavior and parent activation across conditions although these improvements were more pronounced for families in the standard FN condition. At post-intervention, families in the standard FN condition reported higher levels of navigation satisfaction, a shorter time to attend their first mental health appointment, and higher engagement with their navigator. Qualitative findings complemented and expanded the quantitative survey findings. The ATTAIN NAV model of family navigation for autistic children with co-occurring mental health needs demonstrates promising implementation, service, and clinical benefits. Clinical Trials Registration. NCT05344378.
Humans↗
Loss of Methylthioadenosine Phosphorylase (MTAP) Expression: A Potentially Useful Tool for Distinguishing Sarcomatoid Urothelial Carcinoma From Inflammatory Myofibroblastic Tumor.
Inflammatory myofibroblastic tumor (IMT) and sarcomatoid urothelial carcinoma (SarUC) can have striking histologic overlap but have significantly different prognoses and clinical management paradigms. Loss of methylthioadenosine phosphorylase (MTAP) protein expression by immunohistochemistry (IHC) serves as a useful surrogate for homozygous 9p21 deletion, a recurrent genomic alteration in urothelial carcinoma (UC). We analyzed MTAP expression by IHC in 65 SarUCs and 27 urinary tract IMTs to evaluate its utility in navigating this challenging differential diagnosis. Overall, MTAP loss was significantly more frequent in SarUC (55%) compared with IMT (4%) (P < .0001). Among 46 biphasic SarUCs with independently evaluable epithelial and mesenchymal components, divergent expression patterns were frequent. The most common pattern was retention of MTAP staining in both epithelial and mesenchymal components (19/46; 41% of cases), followed by selective retention of MTAP in the epithelial component and loss in the mesenchymal component (16/46; 35% of cases). MTAP loss was observed in both the epithelial and mesenchymal components in 11 out of 46 (24%) SarUC cases. None of the 46 biphasic SarUC cases showed selective MTAP loss in the epithelial component but retention in the mesenchymal component. MTAP IHC was also particularly valuable in assessing clonal relationships in 2 challenging biphasic cases in which the differential diagnosis included a collision between a noninvasive low-grade papillary UC and an IMT versus a subtle IMT-like SarUC arising in association with an overlying noninvasive low-grade papillary UC. Next-generation sequencing on a subset of cases (n = 11) was useful for confirming 9p deletion in cases with MTAP loss by IHC, and for demonstrating molecular hallmarks of urothelial neoplasia thereby providing additional diagnostic support for morphologically challenging SarUC cases with IMT-like morphology. Therefore, MTAP IHC can be useful in evaluating spindle cell lesions of the urinary tract, as loss is significantly more common in SarUC than in IMT, and enriched in the mesenchymal component of biphasic SarUC. However, MTAP loss can be seen in both entities, and the diagnosis of IMT-like spindle cell tumors in the urinary tract requires careful integration of morphologic, immunohistochemical, and molecular data.
Humans↗
Complicated urinary tract infections: evolving definitions, clinical burden, and treatment landscape amid antimicrobial resistance.
INTRODUCTION: Complicated urinary tract infection (cUTI) is a common and heterogeneous infection associated with substantial morbidity, high healthcare utilization, and increasing antimicrobial resistance. Evolving definitions, increasing device use, and changing patient populations have altered its epidemiology and management. Marked variability in diagnostic criteria, clinical trial endpoints within and outside registrational settings, and treatment strategies complicates clinical decision-making and interpretation of therapeutic advances. AREAS COVERED: This review examines contemporary cUTI epidemiology, classification frameworks, and drivers of disease burden. It evaluates resistance trends and their therapeutic implications, alongside stewardship-based management strategies, including empiric antibiotic selection, intravenous-to-oral transition, treatment duration, and source control. Challenges in catheter-associated infection, recurrence, and regulatory endpoint design are discussed, together with the emerging role of novel agents targeting resistant Gram-negative pathogens. EXPERT OPINION: Rising multidrug resistance and limited oral options are reshaping cUTI management, necessitating individualized, stewardship-aligned therapy guided by illness severity and local epidemiology. Current regulatory endpoints inadequately reflect patient-centered outcomes, particularly in the context of asymptomatic bacteriuria. Expanding availability of effective oral agents may enable earlier discharge and outpatient care. Integration of rapid diagnostics and risk stratification will be essential to optimize therapy, limit resistance, and improve outcomes.
Humans↗
Impact of Integrated Continuous Team Midwifery Care on Breastfeeding Success within the Iranian Health System: A Randomized Controlled Trial.
INTRODUCTION: Supporting women during the perinatal period helps build confidence, strengthens early bonding between mother and baby, and encourages successful breastfeeding. Continuous midwifery care models are one of the ways that support women in this periods. OBJECTIVE: This study aimed to evaluate the effect of integrated continuous team midwifery care (ICTMC) in enhancing breastfeeding success in the Iranian health system. METHODS: In this randomized controlled trial, 200 low-risk primiparous women with a gestational age of less than 12 weeks were recruited from public health centers. Participants were randomly assigned to either the intervention group, which received continuous midwifery care throughout pregnancy, childbirth, and postnatal follow-up, or the control group, which received routine care. The primary outcomes were early skin-to-skin contact and breastfeeding success at the time of discharge and at 4-6 weeks postpartum. Data were analyzed using Stata, employing descriptive statistics, Chi-square, independent t-test, Phi/Cramer's V, and Cohen's d. The p < 0.05 is significant. Data were analyzed with SPSS 26. RESULTS: ICTMC groups were significantly more likely to initiate skin-to-skin contactearly skin-to-skin contact immediately after birth (92% vs. 74%, p < 0.001) and achieve successful breastfeeding at the discharge time (88% vs. 70%, p = 0.002) compared to the control group. At 6 weeks postpartum, breastfeeding success remained higher in the intervention group (82% vs. 65%, p = 0.004). CONCLUSION: Women with ICTMC, effectively support skin-to-skin contactearly mother-infant bonding and enhance breastfeeding success among low-risk primiparous women. Integrating this model into routine maternal care may improve perinatal outcomes.
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Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis.
Hearing loss is a global public health burden and mostly affects those living in low- and middle-income countries (LMICs). One approach to address ongoing challenges is the World Health Organization's recommendation for the integration of ear and hearing care (EHC) services into healthcare packages. However, little is known about EHC integration approaches, particularly in LMICs additionally, these approaches have not been investigated through a health systems lens. This qualitative review aimed to describe the various approaches to the EHC service integration in LMICs and to identify enabling and constraining factors. We reviewed 17 studies, with a focus on LMICs, using adaptations of the Valentijn integration and World Health Organization EHC frameworks, following the PRISMA guidelines. Our investigation showed that most integration approaches were at micro or individual level. Enabling factors for integration of EHC services were training, mentorship, collaboration, technology, inclusion of EHC in healthcare packages and investment in EHC services. Barriers were challenges with training, facilities and equipment, policy implementation and resourcing of EHC services. We further described factors influencing healthcare seeking behaviour and the use of integrated EHC services, such as access and ability to pay, referral systems and communication and awareness. This study describes the complex nature of EHC integration and ways to support integration. Key considerations are the level of integration, training to address workforce issues and factors influencing service utilisation as we work towards health system strengthening.
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Multimodal artificial intelligence and machine learning in oncology: from data integration to precision cancer care.
Cancer remains a major global health burden, with approximately 20 million new cases and 9.7 million cancer-related deaths reported globally in 2022. While advances in radiological imaging, molecular profiling, and clinical data have enhanced the interpretation of disease progression, the availability of multiple such modalities still does not meet the needs of a large patient population. This narrative review focuses on the role of multimodal artificial intelligence and machine learning in bridging the gap in interpreting heterogeneous modalities to improve risk prediction, prognostic assessment, and treatment decision-making in precision oncology. Multimodal frameworks such as Pathomic Fusion illustrate how complementary histopathological and genomic information can be integrated for cancer diagnosis and prognostic modeling. Multimodal models have demonstrated potential in virtual biopsy, cancer screening, prognostic prediction, radiotherapy planning, intraoperative guidance, and clinical-trial design using digital twins and synthetic control arms. The major limitations of incorporating multimodal artificial intelligence and machine learning in oncology include data heterogeneity, demographic or institutional biases, and reproducibility challenges that hinder translation. Accordingly, appropriate data-governance strategies, fairness audits, and privacy-preserving approaches such as federated learning should be considered where appropriate. Future progress will depend on the development of standardized benchmarking datasets, robust external validation, seamless integration with electronic health records and picture archiving and communication systems, and the implementation of explainable, secure, and clinically validated multimodal artificial intelligence frameworks that support precision oncology in routine clinical practice.
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Factors associated with successful integration of pharmacists into residential aged care teams: A qualitative study.
BACKGROUND: Australia's Aged Care Onsite Pharmacist program aims to support quality use of medicines in residential aged care homes. This is a novel role introduced into existing teams in a complex environment. Factors associated with successful integration since implementation are currently unknown. AIM: This study aims to explore the perspectives of pharmacists and other stakeholders within aged care homes regarding successful integration of the novel aged care pharmacist service into healthcare teams. METHODS: A qualitative approach, using interpretive descriptive methodology, was used to explore perspectives. Semi-structured focus groups and interviews with pharmacists, nursing and care staff, allied health professionals, general practitioners, residents, and family members were undertaken. Data were collected via Zoom™, audio- and video-recorded, and transcribed verbatim. Two researchers undertook inductive thematic analysis to identify key themes. RESULTS: 30 participants across focus groups, focus-group interviews, interviews, and member-checking processes contributed. An overarching theme of proactivity and showing a genuine interest in others underpinned three key themes. Theme 1: Pharmacists needed to be seen, through physical presence and availability, as well as developing a distinct identity. Theme 2: Pharmacists needed to build trust, through collaboration in real time and demonstrating value. Theme 3: Pharmacists needed to develop an understanding of the aged care home environment, including social and contextual norms, as well as procedures, routines and roles. DISCUSSION: This research complements existing understandings of interprofessional collaboration and teamwork amongst healthcare professionals. Themes were interlinked; we used a sensitising framework, social cognitive theory, to present and explain the findings and interactions that can support pharmacist integration into existing teams. Aged care services should structure onboarding to prioritise early visibility, clarify roles and organisational needs, and foster in-person collaboration. Pharmacists should demonstrate proactivity and an authentic interest in all staff, residents and families.
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Autism care: reimagining the spectrum.
Autism care policy is at a critical inflection point. Applied behavior analysis (ABA), long established as the "gold standard" through state insurance mandates in the US, has functioned as the default reimbursable intervention for autistic children. However, advances in genomics, neuroscience, developmental psychology, and scholarship on autistic lived experience have expanded understanding of autism as a heterogeneous neurotype characterized by meaningful differences in neural organization rather than a unitary disorder. Contemporary models emphasize neurodiversity, strengths-based perspectives, and the interaction between developmental processes and environmental contexts in shaping functional outcomes. Many autistic children also meet criteria for complex care needs, requiring coordinated, interdisciplinary services across health, educational, and community systems. This manuscript proposes reframing the "autism spectrum" from a hierarchy of symptom severity to a prevention-oriented "spectrum of care." Adapting a public health taxonomy, interventions are organized into universal, selective, and indicated levels, targeting the prevention of avoidable disability, distress, and participation barriers. This model aligns autism services with whole-child, neurodiversity-affirming, and developmentally informed care, emphasizing relational health, autonomy, and life-course participation.
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DigiNet: Optimizing personalized care for patients with stage IV non-small cell lung cancer (NSCLC) through a digitally connected provider network-analysis plan of a prospective multicenter cohort trial.
PURPOSE: The German sector-based healthcare system poses a major challenge to continuous patient monitoring and long-term follow-up, both essential for generating high-quality, longitudinal real-world data. The national Network for Genomic Medicine (nNGM) bridges the inpatient and outpatient care sectors to provide comprehensive molecular diagnostics and personalized treatment for non-small cell lung cancer (NSCLC) patients in Germany. Building on the established nNGM infrastructure, the DigiNet study aims to evaluate the impact of digitally integrated, personalized care on overall survival (OS) and the optimization of treatment pathways, compared to routine care. METHODS: DigiNet is a prospective, controlled, non-randomized multicenter cohort study including patients with stage IV NSCLC in two study regions (East and West) in Germany. The results of molecular diagnostics and clinical information, along with the entire treatment data are documented in a shared database. A board of lung cancer specialists monitors critical events. Patients digitally complete quality of life questionnaires, with results visualized for physicians. To assess the impact of this personalized digital care, a population-based control group will be identified by matching cohorts within the involved cancer registries. The primary endpoint is OS, and secondary endpoints comprise time on first-line treatment and hospitalization rates. Furthermore, a health economic and business economic evaluation will be conducted. Qualitative interviews with patients and physicians will be performed to assess barriers and facilitating factors for implementing the DigiNet intervention. ETHICS: The study protocol was reviewed and approved by the Ethics Committee of the University Hospital of Cologne (21-1521). TRIAL REGISTRATION: NCT05818449, registered retrospectively on December 12, 2022.
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The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective.
As genomic testing moves into mainstream healthcare, non-genetic healthcare professionals, including general practitioners (GPs), play a critical role as gatekeepers to genetic services. Laboratories are essential in supporting this transition by providing not only high-quality genetic tests but also point-of-care tools, educational materials and clinical guidance to support their use. This study aimed to explore how these tools and supports are conceptualized, developed, implemented and evaluated and how laboratories integrate them into their relationships with GPs, an essential process for paving the way toward better use of genomics in primary care. A qualitative study design was employed using semi-structured, in-depth interviews with representatives from genetic laboratories across Australia. The Consolidated Framework for Implementation Research (CFIR) guided deductive content analysis of data. Findings spanned the four CFIR domains (Intervention Characteristics, Outer Setting, Inner Setting and Implementation Process) across 34 constructs. Participants reported that laboratories viewed point-of-care tools and resources as essential responses to persistent genomic knowledge gaps among GPs. Development of evidence-based, practice-driven and adaptable resources was supported and rewarded within laboratory organisations. A strong culture of clinical responsibility and implementation readiness, combined with robust networks and communications, enabled timely support for GPs. Gaps identified included lack of implementation planning, misalignments between laboratory-developed resources and GPs' real-world needs and inadequate mechanisms for obtaining GPs' feedback, which made evaluation problematic. By applying an implementation science framework, these findings provide insights for future efforts to build and sustain the provision of point-of-care tools and support, ultimately improving the integration of genomics in primary care.
Journal Article↗
Artificial intelligence agents and agentic artificial intelligence applied to precision medicine.
Precision medicine seeks to individualise care by integrating multimodal biomedical data, yet most deployed clinical artificial intelligence (AI) remains assistive, providing predictions without managing workflows or adapting autonomously. Agentic AI, built on large language models (LLMs), has emerged as a paradigm characterised by autonomy, goal-directed reasoning, memory, planning and tool use. This review synthesises evidence on agentic AI and LLMs applied to precision medicine, encompassing drug discovery, genomics, oncology, rare disease diagnostics and clinical pharmacology. This review also examines architectural components, recent validation milestones and emerging challenges, including hallucination, sociodemographic bias and evolving regulatory frameworks across the FDA, the EU AI Act and the WHO.
agentic AI↗
A viral clonality evenness score to predict progression to adult T-cell leukaemia in asymptomatic carriers of human T-lymphotropic virus type 1 in Japan: a retrospective longitudinal cohort study.
BACKGROUND: Adult T-cell leukaemia/lymphoma (ATL) is a highly aggressive T-cell malignancy that occurs in approximately 2-7% of individuals with human T-lymphotropic virus type 1 (HTLV-1), after decades of asymptomatic infection. To address the urgent need for predictive biomarkers to identify asymptomatic carriers of HTLV-1 at high risk of progression to ATL, we aimed to evaluate viral clonality sequencing as a potential tool for risk stratification. METHODS: This retrospective longitudinal cohort study involved HTLV-1 carriers enrolled in the Joint Study on Predisposing Factors of ATL Development, a nationwide cohort study initiated in Japan in 2002. Participants were selected from this cohort on the basis of their baseline proviral load at the time of enrolment as an asymptomatic carrier, length of follow-up, and clinical outcome. The cohort was subdivided into three subgroups: the first comprising HTLV-1 carriers who developed ATL, the second comprising carriers with high proviral load (≥4%) who did not progress to ATL, and the third comprising carriers with low proviral load (<4%) who did not progress to ATL. DNA extracted from peripheral blood mononuclear cells collected at enrolment and at least one follow-up visit was analysed by HTLV-1 clonality sequencing and the proviral load was quantified. We calculated a viral clonality evenness (VCE) score, based on the Shannon Evenness Index, to quantify the uniformity of the clonal distribution of samples, for which 0 represents a perfectly monoclonal architecture and 1 indicates a completely polyclonal landscape. We then estimated the performance of proviral load thresholds and VCE scoring to classify the risk of progression to ATL using the area under the receiver operating characteristic curve (AUC), the accuracy, and Matthews correlation coefficient. VCEs were compared between participant subgroups with the Wilcoxon rank sum test. FINDINGS: 56 participants followed up by JSPFAD between Feb 6, 2003, and July 19, 2022, were included in this study: 17 who progressed to ATL (mean follow-up 8·3 years [SD 4·0]), 18 who had a high proviral load and did not progress to ATL (9·7 years [3·4]), and 21 who had a low proviral load and did not progress to ATL (7·5 years [3·0]). Clonality sequencing of samples from 39 participants who did not progress to ATL revealed hundreds to thousands of HTLV-1 integration sites at both timepoints, corresponding to multiple clones of low and uniform abundance, and these participants had high VCE scores (≥0·694) at baseline. By contrast, most participants (14 of 17) who progressed to ATL had a single predominant clone or two to four predominant clones at both timepoints, and lower VCE scores (<0·694) at baseline than those who did not progress (p<0·0001). AUCs were very similar for proviral load thresholds (91 [95% CI 80-98]) and VCE scoring (91 [78-100]), although when using methods that give equal weight to every individual, VCE scoring outperformed proviral load thresholds in predicting progression to ATL (accuracy: proviral load 0·76 [95% CI 0·76-0·77], VCE scoring 1·00 [0·99-1·00]; Matthews correlation coefficient: proviral load 0·23 [95% CI 0·19-0·24], VCE scoring 0·91 [0·80-1·00]). Prediction based on VCE scoring indicated no false positives, compared with 20% when using proviral load, although VCE scoring yields a greater number of false negatives (0·3% vs 0·1%). INTERPRETATION: The implementation of VCE scoring in clinical practice could inform early pre-emptive therapeutic interventions, exclusively targeting individuals with HTLV-1 at high risk and aiming to prevent progression to aggressive, treatment-refractory disease. Further validation, including independent confirmation of the performance of VCE scoring in multiple populations and the characterisation of its temporal dynamics, will be crucial to determine its clinical utility and potential integration into care pathways. FUNDING: Association Jules Bordet, FNRS-Télévie, FCC, WALInnov, FLF, JSPS-KAKENHI, and CoBiA.
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Foundations of Artificial Intelligence in Hepatology: What a Clinician Needs to Know.
This review focuses on foundational knowledge about artificial intelligence (AI) in hepatology, exploring how AI, including machine learning and deep learning, leverages large-scale clinical data to transform the diagnosis, risk assessment, prognostication, and management of liver diseases. Online resources are described to offer fundamental AI knowledge and essential technical skills and to facilitate clinician participation across the entire AI lifecycle, ensuring they contribute not only as end users but also in development and deployment. Unlike traditional statistical approaches that prioritize interpretable parameters and clinical insight, AI focuses on maximizing predictive accuracy by identifying complex, often non-linear patterns using high-dimensional data, albeit often at the cost of model interpretability. AI is demonstrating clinical utility in liver histopathology and radiological imaging, significantly improving detection accuracy for cirrhosis, clinically significant portal hypertension, and hepatocellular carcinoma. Beyond diagnostics, AI-driven prediction models are emerging to provide personalized risk stratification for the development of liver-related complications and treatment guidance, based on complex data including longitudinal laboratory results, comorbidities, and co-medication use to monitor disease progression and therapy response. The field is rapidly expanding into novel areas such as analyzing patient-reported outcomes, genomic data, and real-time liver function monitoring, offering deeper mechanistic insights alongside clinical tools. Despite the potential to revolutionize hepatology practice and research, successful integration into routine care faces challenges. These include seamless workflow integration with existing electronic health records, establishing clear liability frameworks, and guaranteeing protection of patient privacy. Addressing these hurdles requires collaborative efforts from clinicians, researchers, and regulators to develop best practices and governance. Understanding the transformative capabilities, current applications, emerging frontiers, and essential implementation considerations is crucial for clinicians navigating the evolving AI landscape and responsibly utilizing its power for improved patient outcomes.
PROBAST+AI↗
Precision medicine and parental experience: a longitudinal study of psychosocial responses to germline genomic results in pediatric oncology.
INTRODUCTION: Precision medicine has become central to pediatric oncology, with germline genomic sequencing commonly integrated into routine care. Families must interpret complex genomic findings during emotionally vulnerable periods, generating mixed reactions ranging from clarity and relief to anxiety and uncertainty. Palliative care clinicians, genetic counselors, psychologists, social workers, and oncology providers may each contribute to supporting families as they interpret and integrate these findings over the course of a child's cancer care and beyond. Little is known about the trajectory of parental emotional and cognitive responses after receiving germline sequencing results, limiting clinicians' ability to anticipate support needs across the cancer care continuum. This study quantitatively examines parental emotional and cognitive responses across time following disclosure of germline sequencing results in a pediatric oncology setting. METHODS: Parents (n = 218) self-reported sequencing-related distress, positive feelings, intrusive thoughts, certainty, and self-efficacy using validated measures at two longitudinal follow-up points after disclosure of their child's germline test results. Outcomes were compared across germline test result types (pathogenic/likely pathogenic [P/LP], n = 31 [14%]; variants of uncertain significance [VUS], n = 86 [39%]; and negative, n = 101[46%]). RESULTS: Parents of children receiving P/LP or P/LP+VUS results reported significantly higher distress yet greater positive feelings than parents receiving negative results. Notably, certainty and self-efficacy increased from Timepoint 1 (median 254 days following return of results) to Timepoint 2 (median 537 days). Intrusive thoughts did not significantly differ by genetic result type or change over time; however, the factors contributing to intrusive thoughts could not be determined from the current study. DISCUSSION: These findings provide insight into how families adapt to germline genomic information following a pediatric cancer diagnosis. As precision medicine becomes increasingly embedded in pediatric oncology, structured follow-up and communication that address families' evolving informational and psychosocial needs are essential to ensure care that is scientifically precise, emotionally attuned, and centered on the family experience.
family-centered care↗
Feasibility of using patient navigation to improve identification of hereditary cancer syndromes in newly diagnosed patients with colorectal cancer.
PURPOSE: Germline genetic testing to identify hereditary cancer syndromes in patients newly diagnosed with colorectal cancer (CRC) carries substantial benefits. We examined the feasibility of using patient navigation, an evidence-based approach to reduce structural barriers to recommended care, to improve test completion by increasing pretest counseling attendance. METHODS: We conducted key informant interviews with representatives from organizations providing cancer care to CRC patients. Interviews included questions derived from the Consolidated Framework for Implementation Research, which delineates barriers and facilitators to implementing evidence-based practices. We used an inductive-deductive coding approach to identify themes related to program feasibility. RESULTS: We interviewed 19 participants across 13 organizations. Key feasibility barriers included funding to implement and sustain a navigation program, staffing and supervising the navigator role, health information technology needs, gaining administrators' buy-in, and evolving genetic service delivery models. Participants suggested multiple strategies to address implementation barriers, but most would prefer other approaches to improve genetic test completion over implementing a genomics-focused patient navigation program. CONCLUSION: Stakeholders across a range of health care organizations saw limited value in improving the identification of hereditary CRC syndromes by implementing a program designed to increase pretest genetic counseling attendance. The need to scale up genetic testing has shifted interest toward delivery models better integrated in established care pathways, requiring fewer resources and providing broader reach.
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Primary care providers' perspectives on receiving opportunistic genomic results from a national study: The Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study.
PURPOSE: Patients are increasingly obtaining genetic health information and integrating it into their care with the help of their primary care provider (PCP). However, PCPs may not be adequately prepared to effectively utilize genetic results. Across the Veterans Health Administration health system, the Million Veteran Program Return Of Actionable Results-Familial Hypercholesterolemia (MVP-ROAR-FH) Study clinically confirms and returns genetic results associated with familial hypercholesterolemia (FH), identified in a national biobank program. METHODS: PCPs who received their patient's genetic results through the MVP-ROAR-FH study were invited to participate in semistructured interviews, which explored PCPs' familiarity with FH, how the results affected medical management, and suggestions for process improvement. Interviews were transcribed and analyzed using directed content analysis and constant comparison methods to identify key themes. RESULTS: Interviews with 9 PCPs revealed varied levels of familiarity with genetic testing and FH. Most PCPs did not distinguish FH from common high cholesterol issues and already used similar treatment approaches. Many PCPs did not recall receiving results from the MVP-ROAR-FH study. Alerts in medical records were deemed effective for communicating results. PCPs valued genetics in informing patient care and identifying at-risk family members but noted several implementation barriers, such as additional workload and unclear medical management benefits. Recommendations for improving results disclosure included simplifying the genetic testing report and associated support documents. CONCLUSION: The study represents the first investigation into PCPs' experiences with receiving genetic test results from a biobank linked to a national healthcare system. Results suggest that PCPs generally view genetic testing as beneficial, although they may not significantly alter medical management. PCPs expressed that integrating genetics into routine care may be burdensome and require additional training, which may not be practical. The study underscores the need for accessible genetic information, which could be aided by specialized support roles or different clinical specialties assisting with incorporating genetic results into patient care.
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